Disease #01763 (ECTD10B (dysplasia, ectodermal, type 10B, hypohidrotic/hair/tooth, autosomal recessive (ECTD10B)), OMIM:224900)

Official abbreviation ECTD10B
Name dysplasia, ectodermal, type 10B, hypohidrotic/hair/tooth, autosomal recessive (ECTD10B)
OMIM ID 224900
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 9
Phenotype entries for this disease 7
Associated with 1 gene EDAR
Associated tissues -
Disease features -
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Individuals

9 entries on 1 page. Showing entries 1 - 9.
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00057902 - PubMed: Cluzeau 2011 - M yes Turkey - >03y 0 - - ECTD10B sparse hair (HP:0008070), reduced number of teeth (HP:0009804), hypohidrosis (HP:000966), facial dysmorphism (HP:0001999), diffuse palmoplantar hyperkeratosis (HP:0007447) EDAR EDAR 1 1 Johan den Dunnen
00058501 - PubMed: Wohlfart 2016 - - yes Germany - - 0 - - ECTD10B hypohidrotic ectodermal dysplasia EDAR EDAR 1 1 Sigrun Maier-Wohlfart
00058502 - PubMed: Wohlfart 2016 - - ? Germany - - 0 - - ECTD10B hypohidrotic ectodermal dysplasia EDAR EDAR 1 1 Sigrun Maier-Wohlfart
00179457 - - - M ? Germany - - 0 - - ECTD10B - EDAR EDAR 1 1 Sigrun Maier-Wohlfart
00299677 - - - F no Germany - - 0 - - ECTD10B - EDAR EDAR 2 1 Sigrun Maier-Wohlfart
00299798 - PubMed: Wohlfart 2016 - - no Germany - - 0 - - ECTD10B hypohidrotic ectodermal dysplasia EDAR EDAR 1 1 Sigrun Maier-Wohlfart
00299799 - PubMed: Wohlfart 2016 - - no Germany - - 0 - - ECTD10B hypohidrotic ectodermal dysplasia EDAR EDAR 1 1 Sigrun Maier-Wohlfart
00299800 - PubMed: Wohlfart 2016 - - no Germany - - 0 - - ECTD10B hypohidrotic ectodermal dysplasia EDAR EDAR 1 1 Sigrun Maier-Wohlfart
00299801 - PubMed: Wohlfart 2016 - - no Germany - - 0 - - ECTD10B hypohidrotic ectodermal dysplasia EDAR EDAR 1 1 Sigrun Maier-Wohlfart
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